Fetal akinesia deformation sequence. Pena – Shokeir type I syndrome. New features of an un-uncommon condition

Eguiluz, I.; Barber, M.A.; Martín, A.; Plasencia, W.; Arencibia, Octavio

doi:10.1080/01443610600987183

Cited by 6 publications

(5 citation statements)

References 6 publications

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“…It has been suggested that Pena‐Shokeir syndrome is caused by a primary motor neuropathy with diffuse muscle atrophy, resulting from paucity of the anterior horn cells in the spinal cord . The hypothesis of the neural cause of akinesia is supported by the very high recurrent rate of Pena‐Shokeir syndrome among women with myasthenia gravis and some evidence indicating that the pathogenesis occurs at the neuromuscular junction . Our findings suggest that central neuropathy is unlikely to play an important role in the pathogenesis.…”

Section: Discussionsupporting

confidence: 47%

“…4 The hypothesis of the neural cause of akinesia is supported by the very high recurrent rate of Pena-Shokeir syndrome among women with myasthenia gravis and some evidence indicating that the pathogenesis occurs at the neuromuscular junction. 6 Our findings suggest that central neuropathy is unlikely to play an important role in the pathogenesis. Because it is well established that both fetal movement and fetal heart rate acceleration as indicators of well-oxygenated CNS can be provoked by acoustic stimulation, the fact that only the heart rate response without movement was observed in our case would suggest that Pena-Shokeir sequence is a peripheral pathologic disorder.…”

Section: Discussionmentioning

confidence: 67%

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Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation

Pittyanont

Jatavan

Suwansirikul

et al. 2016

J. Clin. Ultrasound

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A fetal sonographic screening examination performed at 23 weeks showed polyhydramnios, micrognathia, fixed postures of all long bones, but no movement and no breathing. The fetus showed fetal heart rate acceleration but no movement when acoustic stimulation was applied with artificial larynx. All these findings persisted on serial examinations. The neonate was stillborn at 37 weeks and a final diagnosis of Pena-Shokeir sequence was made. In addition to typical sonographic features of Pena-Shokeir sequence, fetal heart rate accelerations with no movement in response to acoustic stimulation suggests that peripheral myopathy may possibly play an important role in the pathogenesis of the disease. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:459-462, 2016.

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Section: Discussionsupporting

confidence: 47%

Section: Discussionmentioning

confidence: 67%

Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation

Pittyanont

Jatavan

Suwansirikul

et al. 2016

J. Clin. Ultrasound

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“…The hypothesis of neural cause of fetal akinesia is nourished by the extremely high recurrence risk of PSP in mothers with clinically evident myasthenia gravis, and the fact that the pathological process takes place at the neuromuscular junction [16] . There has been no reported case of a healthy child born after an affected sibling.…”

Section: Discussionmentioning

confidence: 99%

Arthrogryposis Multiplex Congenita and Pena-Shokeir Phenotype: Challenge of Prenatal Diagnosis – Report of 21 Cases, Antenatal Findings and Review

Hoellen

Schröer²,

Kelling³

et al. 2011

Fetal Diagn Ther

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Objective: To elaborate the antenatal sonographic findings of fetuses with the suspicion of fetal akinesia, thereby focusing on the accuracy of prenatal differentiation between subtypes of fetal akinesia, namely Pena-Shokeir phenotype (PSP) and arthrogryposis multiplex congenita (AMC). Methods: We herein present our experience of 21 patients with PSP and AMC diagnosed antenatally at a tertiary prenatal referral center. During the study period 30,485 consecutive high- and low-risk pregnancies were examined. The prenatal sonograms, pediatric charts and autopsy data of affected individuals were reviewed. Our findings were analyzed together with findings retrieved from the literature. Results: The diagnosis of AMC has been established between 12+0 and 30+1 gestational weeks, whereas cases found to have PSP were all diagnosed in advanced pregnancy. In accordance to previous findings, our data suggest that pulmonary hypoplasia is obligatory in PSP and cannot be found in AMC. Therefore, all pregnancies (9/9) affected by PSP were terminated on parental request. Of those fetuses with AMC, 3/12 were liveborn, 2 of which have neuromotoric disabilities. Conclusions: Establishing the correct prenatal diagnosis of PSP and AMC at an early stage and its diligent prognostic evaluation play a crucial role in order to provide adequate advice to the afflicted parents and to enable appropriate intervention at an early stage.

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“…[3] The ultrasound diagnosis of arthrogryposis during prenatal care is made initially through the observation of decreased or absent movement of the extremities of the fetus. [4] In the first trimester, early stage of decreased movement and joint contractures can be detected. [5]…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography

Santana

Serni

Rôlo

et al. 2014

Journal of Clinical Imaging Science

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Pena-Shokeir syndrome is a rare autosomal recessive disease, characterized by facial anomalies, arthrogryposis, polyhydramnios, fetal growth restriction, and pulmonary hypoplasia. This report describes the findings of this anomaly with two and three-dimensional ultrasound in a female in her 28th week of pregnancy, who was referred to us because the fetus presented arthrogryposis of unknown cause. These imaging methods allowed adequate evaluation of the fetal malformations and also enabled appropriate counseling of the couple.

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Fetal akinesia deformation sequence. Pena – Shokeir type I syndrome. New features of an un-uncommon condition

Cited by 6 publications

References 6 publications

Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation

Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation

Arthrogryposis Multiplex Congenita and Pena-Shokeir Phenotype: Challenge of Prenatal Diagnosis – Report of 21 Cases, Antenatal Findings and Review

Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography

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